中国人群中α1,2岩藻糖基转移酶基因C35T变异的频率研究

目的 研究中国人群中α1，2岩藻糖基转移酶（alpha-1,2-fucosyltransferase,FUT1）基因FUT1 C35T变异的等位基因频率。方法 聚合酶链反应扩增包括C35T变异区域的FUT1基因DNA片段，扩增产物用Hae Ⅲ进行酶切，建立鉴定FUT1基因h4等位基因的PCR-限制性片段长度多态性方法。应用该方法对158名随机汉族人群样本进行检测。结果 158名随机样本中，35T/T纯合子8名，35C/T杂合子67名，35C/C纯合子83名，符合Hardy-Weinbery遗传平衡。所有样本的ABO血型鉴定均正常。而非日缺陷。结论FUT1基因C35T不是引起类孟买型的基因突变，而是一种常见的基因多态性。

Study on the frequency of alpha-1,2-fucosyltransferase gene h4 allele (C35T) in Chinese population

OBJECTIVE: To investigate the h4 allele (C35T) frequency of alpha-1,2-fucosyltransferase gene in Chinese population. METHODS: The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method for identifying C35T variant was established by using PCR to amplify a 125 bp FUT1 gene fragment, including C35T variant sequence, and the PCR product was digested by Hae III restriction enzyme. One hundred and fifty-eight random samples from Chinese blood donor were screened by PCR-RFLP. RESULTS: Among 158 Chinese individuals with normal ABO and H blood group phenotypes, 8 and 83 were homozygous with 35T/T and 35C/C, respectively, while 67 were heterozygous with 35C/T. The allele frequencies were compatible with Hardy-Weinberg equilibrium. CONCLUSION: The C35T substitution of FUT1 gene is not a mutation which gives rise to a non-functional h allele responsible for para-Bombay phenotype but a single nucleotide polymorphism in Chinese population.